Varaico: Literature-Extracted Genetic Variants

Gene:GDA
Variant:p.C2Y

GDA

61 papers

RefSeq Summary

This gene encodes an enzyme responsible for the hydrolytic deamination of guanine. Studies in rat ortholog suggest this gene plays a role in microtubule assembly. Multiple transcript variants encoding...

Pfam Domains

Amidohydro_1aa 73–447UCSCAmidohydrolase family

Gene Aliases

HGNC Name

guanine deaminase

HGNC Alias Symbols

CYPIN; GAH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004293.5
p.C2Y
c.5G>A
Surrounding Variants
1 paper
NM_004293.5
p.M1V
c.1A>G
1 paper
NM_004293.5
p.P25T
c.73C>A
1 paper
NM_004293.5
p.M26I
c.78G>A
1 paper
NM_004293.5
p.E27V
c.80A>T
1 paper
NM_004293.5
p.R30W
c.88C>T
2 papers
NM_004293.5
p.L34F
c.100C>T
1 paper
NM_004293.5
p.G35G
c.105C>A
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